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There has been continuous progress in diabetes management over the last few decades, not least due to the widespread dissemination of continuous glucose monitoring (CGM) and automated insulin delivery systems. These technological advances have radically changed the daily lives of people living with diabetes, improving the quality of life of both children and their families. Despite this, hypoglycemia remains the primary side-effect of insulin therapy. Based on a systematic review of the available scientific evidence, this paper aims to provide evidence-based recommendations for recognizing, risk stratifying, treating, and managing patients with hypoglycemia. The objective of these recommendations is to unify the behavior of pediatric diabetologists with respect to the timely recognition and prevention of hypoglycemic episodes and the correct treatment of hypoglycemia, especially in patients using CGM or advanced hybrid closed-loop systems. All authors have long experience in the specialty and are members of the Italian Society of Pediatric Endocrinology and Diabetology. The goal of treating hypoglycemia is to raise blood glucose above 70 mg/dL (3.9 mmol/L) and to prevent further decreases. Oral glucose at a dose of 0.3 g/kg (0.1 g/kg for children using "smart pumps" or hybrid closed loop systems in automated mode) is the preferred treatment for the conscious individual with blood glucose <70 mg/dL (3.9 mmol/L), although any form of carbohydrate (e.g., sucrose, which consists of glucose and fructose, or honey, sugary soft drinks, or fruit juice) containing glucose may be used. Using automatic insulin delivery systems, the oral glucose dose can be decreased to 0.1 g/kg. Practical flow charts are included to aid clinical decision-making. Although representing the official position of the Italian Society of Pediatric Endocrinology and Diabetology (ISPED), these guidelines are applicable to the global audience and are especially pertinent in the era of CGM and other advanced technologies.
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Automonitorización de la Glucosa Sanguínea , Hipoglucemia , Hipoglucemiantes , Insulina , Humanos , Hipoglucemia/prevención & control , Niño , Adolescente , Automonitorización de la Glucosa Sanguínea/métodos , Insulina/administración & dosificación , Insulina/uso terapéutico , Hipoglucemiantes/uso terapéutico , Hipoglucemiantes/administración & dosificación , Glucemia/análisis , Diabetes Mellitus Tipo 1/tratamiento farmacológico , Diabetes Mellitus Tipo 1/complicaciones , Sistemas de Infusión de Insulina , Medición de Riesgo , Guías de Práctica Clínica como Asunto/normas , Manejo de la EnfermedadRESUMEN
AIMS: Glargine 300 U/mL (Gla-300) has been recently approved for use in children and adolescents with type 1 diabetes (T1D). However, real-world effectiveness data are scarce, and aim of this analysis was to assess clinical outcomes in young patients with T1D switching from 1st generation basal insulin (1BI) to Gla-300. METHODS: ISPED CARD is a retrospective, multicenter study, based on data anonymously extracted from Electronic Medical Records. The study involved a network of 20 pediatric diabetes centers. Data on all patients aged < 18 years with T1D switching from 1BI to Gla-300 were analyzed to assess clinical characteristics at the switch and changes after 6 and 12 months in glycated hemoglobin (HbA1c), fasting blood glucose (FBG), and standardized body mass index (BMI/SDS). Titration of basal and short-acting insulin doses was also evaluated. RESULTS: Overall, 200 patients were identified. The mean age at the switch to Gla-300 was 13 years, and mean duration of diabetes was 3.9 years. Average HbA1c levels at switch were 8.8%. After 6 months, HbA1c levels decreased by - 0.88% (95% CI - 1.28; - 0.48; p < 0.0001). The benefit was maintained after 12 months from the switch (mean reduction of HbA1c levels - 0.80%, 95% CI - 1.25; - 0.35, p = 0.0006). Trends of reduction in FBG levels were also evidenced both at 6 months and 12 months. No significant changes in short-acting and basal insulin doses were documented. CONCLUSIONS: The study provides the first real-world evidence of the effectiveness of Gla-300 in children and adolescents with T1D previously treated with 1BI. The benefits in terms of HbA1c levels reduction were substantial, and sustained after 12 months. Additional benefits can be expected by improving the titration of insulin doses.
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AIM: To analyze the prevalence of anxiety and depression in a large cohort of adults with autoimmune diabetes, identifying sex-driven associated factors. MATERIALS AND METHODS: In this cross-sectional study, we enrolled 553 consecutive adults with Type 1 diabetes mellitus or latent autoimmune diabetes in adults who came to the Division of Endocrinology of the S.Orsola-Malpighi Polyclinic, Bologna (Italy), to receive their second dose of SARS-CoV-2 vaccine. We administered the questionnaires: Hospital Anxiety and Depression Scale, Diabetes Distress Scale, Diabetes-related Quality of Life, Diabetes Treatment Satisfaction Questionnaire. We collected clinical and biochemical data and 14 days glucose metrics in patients with sensor use > 70% in a time span of ± 4 months from the questionnaires' administration. We excluded 119 patients from our analyses with missing data (final cohort n = 434: 79% of those enrolled). RESULTS: Anxiety and depression prevalence was respectively 30.4% and 10.8%. According to the multivariate analysis, higher diabete-related emotional burden, lower treatment satisfaction, but not physician-related distress, were risk factors for anxiety and depression; female sex was associated with anxiety (OR 0.51, 95% 0.31-0.81; p = 0.005); in women, depression was associated with increasing age (males vs. females OR 0.96 per 1 year increase, 95% CI 0.92-1.00; p = 0.036), whilst in men with HbA1c (OR 1.08 per 1 mmol/mol increase, 95% CI 1.03-1.13; p = 0.002). CONCLUSION: Nearly 1/3 of patients with autoimmune diabetes suffers from anxiety and 1/10 from depression. These conditions are associated with independent modifiable and non-modifiable characteristics. For depression, these characteristics differ between males and females.
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OBJECTIVE: To investigate glucose metrics and identify potential predictors of the achievement of glycemic outcomes in children and adolescents during their first 12 months of MiniMed 780G use. RESEARCH DESIGN AND METHODS: This multicenter, longitudinal, real-world study recruited 368 children and adolescents with type 1 diabetes (T1D) starting SmartGuard technology between June 2020 and June 2022. Ambulatory glucose profile data were collected during a 15-day run-in period (baseline), 2 weeks after automatic mode activation, and every 3 months. The influence of covariates on glycemic outcomes after 1 year of MiniMed 780G use was assessed. RESULTS: After 15 days of automatic mode use, all glucose metrics improved compared with baseline (P < 0.001), except for time below range (P = 0.113) and coefficient of variation (P = 0.330). After 1 year, time in range (TIR) remained significantly higher than at baseline (75.3% vs. 62.8%, P < 0.001). The mean glycated hemoglobin (HbA1c) over the study duration was lower than the previous year (6.9 ± 0.6% vs. 7.4 ± 0.9%, P < 0.001). Time spent in tight range (70-140 mg/dL) was 51.1%, and the glycemia risk index was 27.6. Higher TIR levels were associated with a reduced number of automatic correction boluses (P < 0.001), fewer SmartGuard exits (P = 0.021), and longer time in automatic mode (P = 0.030). Individuals with baseline HbA1c >8% showed more relevant improvement in TIR levels (from 54.3% to 72.3%). CONCLUSIONS: Our study highlights the sustained effectiveness of MiniMed 780G among youth with T1D. Findings suggest that even children and adolescents with low therapeutic engagement may benefit from SmartGuard technology.
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Glucemia , Diabetes Mellitus Tipo 1 , Sistemas de Infusión de Insulina , Insulina , Humanos , Diabetes Mellitus Tipo 1/tratamiento farmacológico , Diabetes Mellitus Tipo 1/sangre , Adolescente , Niño , Masculino , Femenino , Glucemia/análisis , Glucemia/metabolismo , Insulina/administración & dosificación , Insulina/uso terapéutico , Hipoglucemiantes/uso terapéutico , Hipoglucemiantes/administración & dosificación , Estudios Longitudinales , Automonitorización de la Glucosa Sanguínea/métodos , Hemoglobina Glucada/metabolismo , Hemoglobina Glucada/análisisRESUMEN
CONTEXT: In the last decade the Sanger method of DNA sequencing has been replaced by next-generation sequencing (NGS). NGS is valuable in conditions characterized by high genetic heterogeneity such as neonatal diabetes mellitus (NDM). OBJECTIVE: To compare results of genetic analysis of patients with NDM and congenital severe insulin resistance (c.SIR) identified in Italy in 2003-2012 (Sanger) vs 2013-2022 (NGS). METHODS: We reviewed clinical and genetic records of 104 cases with diabetes onset before 6 months of age (NDM + c.SIR) of the Italian dataset. RESULTS: Fifty-five patients (50 NDM + 5 c.SIR) were identified during 2003-2012 and 49 (46 NDM + 3 c.SIR) in 2013-2022. Twenty-year incidence was 1:103 340 (NDM) and 1:1 240 082 (c.SIR) live births. Frequent NDM/c.SIR genetic defects (KCNJ11, INS, ABCC8, 6q24, INSR) were detected in 41 and 34 probands during 2003-2012 and 2013-2022, respectively. We identified a pathogenic variant in rare genes in a single proband (GATA4) (1/42 or 2.4%) during 2003-2012 and in 8 infants (RFX6, PDX1, GATA6, HNF1B, FOXP3, IL2RA, LRBA, BSCL2) during 2013-2022 (8/42 or 19%, P = .034 vs 2003-2012). Notably, among rare genes 5 were recessive. Swift and accurate genetic diagnosis led to appropriate treatment: patients with autoimmune NDM (FOXP3, IL2RA, LRBA) were subjected to bone marrow transplant; patients with pancreas agenesis/hypoplasia (RFX6, PDX1) were supplemented with pancreatic enzymes, and the individual with lipodystrophy caused by BSCL2 was started on metreleptin. CONCLUSION: NGS substantially improved diagnosis and precision therapy of monogenic forms of neonatal diabetes and c.SIR in Italy.
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Diabetes Mellitus , Humanos , Italia/epidemiología , Recién Nacido , Masculino , Femenino , Lactante , Diabetes Mellitus/epidemiología , Diabetes Mellitus/genética , Secuenciación de Nucleótidos de Alto Rendimiento , Enfermedades del Recién Nacido/epidemiología , Enfermedades del Recién Nacido/genética , Pruebas Genéticas/métodos , Resistencia a la Insulina/genética , Mutación , Incidencia , Estudios RetrospectivosRESUMEN
AIMS: While continuous glucose monitoring (CGM) and associated technologies have positive effects on metabolic control in young people with type 1 diabetes (T1D), less is known about their impact on quality of life (QoL). Here, we quantified CGM satisfaction and QoL in young people with T1D and their parents/caregivers to establish (i) the relationship between QoL and CGM satisfaction and (ii) the impact of the treatment regimen on QoL. METHODS: This was a cross-sectional study of children and adolescents with T1D on different treatment regimens (multiple daily injections, sensor-augmented pumps and automated insulin delivery). QoL was assessed with the KINDL instrument, and CGM satisfaction with the CGM-SAT questionnaire was evaluated in both youths with T1D and their parents. RESULTS: Two hundred and ten consecutively enrolled youths with T1D completed the KINDL and CGM-SAT questionnaires. The mean total KINDL score was greater than neutral in both subjects with T1D (3.99 ± 0.47) and parents (4.06 ± 0.40), and lower overall CGM-SAT scores (i.e., higher satisfaction) were significantly associated with higher QoL in all six KINDL subscales (p < 0.05). There were no differences in KINDL scores according to delivery technology or when participants were grouped according to optimal and sub-optimal glucose control. CONCLUSIONS: Higher satisfaction with recent CGMs was associated with better QoL in all dimensions. QoL was independent of both the insulin delivery technology and glycaemic control. CGM must be further disseminated. Attention on perceived satisfaction with CGM should be incorporated with the clinical practice to improve the well-being of children and adolescents with T1D and their families.
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Automonitorización de la Glucosa Sanguínea , Diabetes Mellitus Tipo 1 , Hipoglucemiantes , Sistemas de Infusión de Insulina , Insulina , Satisfacción del Paciente , Calidad de Vida , Humanos , Diabetes Mellitus Tipo 1/sangre , Diabetes Mellitus Tipo 1/psicología , Diabetes Mellitus Tipo 1/tratamiento farmacológico , Adolescente , Masculino , Femenino , Niño , Estudios Transversales , Insulina/uso terapéutico , Insulina/administración & dosificación , Hipoglucemiantes/uso terapéutico , Control Glucémico , Glucemia/metabolismo , Glucemia/análisis , Encuestas y Cuestionarios , Padres/psicología , Hemoglobina Glucada/metabolismo , Hemoglobina Glucada/análisis , Monitoreo Continuo de GlucosaRESUMEN
AIM: In Italy, the ISPED CARD initiative was launched to measure and improve quality of care in children and adolescents with type 1 diabetes. METHODS: Process and outcome indicators and the related information derived from electronic medical records were identified. A network of pediatric diabetes centers was created on a voluntary basis. RESULTS: Overall, 20 centers provided data on 3284 patients aged < = 18 years. HbA1c was monitored ≥ 2/year in 81.2% of the cases. BMI was monitored ≥ 1/year in 99.0%, lipid profile in 45.3%, and blood pressure in 91.7%. Pubertal status, albuminuria, eye examination, and screening of celiac disease and thyroiditis were underreported. From 2017 to 2021, average HbA1c levels decreased from 7.8 ± 1.2 to 7.6 ± 1.3%, while patients with LDL cholesterol > 100 mg/dl increased from 18.9 to 36.7%. Prevalence of patients with elevated blood pressure and BMI/SDS values also increased. In 2021, 44.7% of patients were treated with the newest basal insulins, while use of regular human insulin had dropped to 7.7%. Use of insulin pump remained stable (37.9%). CONCLUSIONS: This report documents the feasibility of the ISPED CARD initiative and shows lights and shadows in the care provided. Improving care, increasing number of centers, and ameliorating data recording represent future challenges.
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Diabetes Mellitus Tipo 1 , Mejoramiento de la Calidad , Sistema de Registros , Humanos , Niño , Adolescente , Masculino , Femenino , Sistema de Registros/estadística & datos numéricos , Diabetes Mellitus Tipo 1/terapia , Italia/epidemiología , Hemoglobina Glucada/análisis , Hemoglobina Glucada/metabolismo , Preescolar , Calidad de la Atención de Salud/normas , LactanteRESUMEN
Glycemic abnormalities are a frequent finding in pediatric oncological patients, both during treatment and after its discontinuation. Moreover, impaired glucose tolerance (IGT), impaired fasting glycemia (IFG) and diabetes mellitus (DM) are not rarely diagnosed in non-oncological hematological diseases. To explore the current pediatric Italian approach to the diagnosis and the management of the glycemic alterations in this clinical setting and, thus, to identify and enforce current clinical needs, we submitted an online 23-items survey to all the Italian Associazione Italiana Ematologia Oncologia Pediatrica (AIEOP) centers, and surveys were descriptively analyzed. Thirty-nine AIEOP centers were involved in the study. In 2021, among 75278 children and adolescents affected by an oncological or a hematological disease, 1.2 and 0.65% developed DM, while IGT or IFG were widespread in 2.3 and 2.8%, respectively. The main causes of DM were the use of corticosteroids in patients with cancer and the iron overload in patients with thalassemia. Venous fasting plasma glycemia was the most used tool to detect glycemic abnormalities. The performance of oral glucose tolerance test (OGTT) was extremely limited, except when IFG occurred. Despite the diagnosis of DM, â¼45% of patients with cancer and 30% of patients with one hematological disease did not receive an appropriate treatment. In the other cases, insulin was the drug of first choice. Emerging technologies for diabetes care (glucose sensors and insulin pumps) are not largely used yet. The results of our study support the standardization of the care of the glycemic abnormalities during or after onco-hematologic diseases in the pediatric age. Despite the scarce data in pediatric literature, proper guidelines are needed.
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Diabetes Mellitus , Intolerancia a la Glucosa , Enfermedades Hematológicas , Insulinas , Neoplasias , Estado Prediabético , Adolescente , Humanos , Niño , Glucemia , Diabetes Mellitus/diagnóstico , Intolerancia a la Glucosa/diagnóstico , Enfermedades Hematológicas/epidemiología , Enfermedades Hematológicas/terapia , HomeostasisRESUMEN
INTRODUCTION: Reducing cardiovascular risk factors (CVRFs) exposure in children and youths with type 1 diabetes (T1D) is critical for cardiovascular diseases (CVD) prevention. Long-term exposure to hyperglycaemia, measured by HbA1c, had been recognized as the main factor affecting CVRFs profile. To date, the possible association between short-term glycaemic control and variability measured by continuous glucose monitoring (CGM) metrics and CVRFs has not been explored. The aim of this study was to test the hypothesis that CGM metrics independently contribute to CVRFs exposure in children and youths with T1D. METHOD: BMI, blood pressure (BP), lipid profile, and CGM data of 895 children and youths with T1D were analysed. Binary multivariable logistic regression analyses were performed to test independent associations between CVRFs (BMI percentile>85th, LDL-c>100 mg/dL, BP>90th percentile) and CGM metrics according to sex and adjusting for confounding factors. RESULTS: In both sexes, metrics of hypoglycaemia and glycaemic variability (coefficient of variation [%CV]) positively correlated with BMI percentile. LDL-c positively correlated with mean glucose and metrics of hyperglycaemia. A negative correlation was found between LDL-c and time in range (TIR). No significant correlations were found between CGM metrics and BP percentiles. In both sexes, TIR<70% was significantly associated with LDL-c>100 mg/dL (OR 3.2 in males, 2.1 in females). In females, CV>36% was significantly associated with overweight (OR 2.1). CONCLUSIONS: CGM metrics of glycaemic control and variability were significantly associated with the risk of overweight in females and high LDL-c in both sexes.
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AIMS: Continuous glucose monitoring (CGM) can improve glucometrics in children with type 1 diabetes (T1D), and its efficacy is positively related to glucose sensor use for at least 60% of the time. We therefore investigated the relationship between CGM satisfaction as assessed by a robust questionnaire and glucose control in pediatric T1D patients. METHODS: This was a cross-sectional study of children and adolescents with T1D using CGM. The CGM Satisfaction (CGM-SAT) questionnaire was administered to patients and demographic, clinical, and glucometrics data were recorded. RESULTS: Two hundred and ten consecutively enrolled patients attending 14 Italian pediatric diabetes clinics completed the CGM-SAT questionnaire. CGM-SAT scores were not associated with age, gender, annual HbA1c, % of time with an active sensor, time above range (TAR), time below range (TBR), and coefficient of variation (CV). However, CGM satisfaction was positively correlated with time in range (TIR, p < 0.05) and negatively correlated with glycemia risk index (GRI, p < 0.05). CONCLUSIONS: CGM seems to have a positive effect on glucose control in patients with T1D. CGM satisfaction is therefore an important patient-reported outcome to assess and it is associated with increased TIR and reduced GRI.
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Diabetes Mellitus Tipo 1 , Adolescente , Humanos , Niño , Diabetes Mellitus Tipo 1/tratamiento farmacológico , Glucemia , Automonitorización de la Glucosa Sanguínea , Estudios Transversales , Encuestas y Cuestionarios , HipoglucemiantesRESUMEN
Glycemia risk index (GRI) is a novel composite metric for the evaluation of the safety of glycemic management and control. The aim of this study was to evaluate GRI and its correlations with continuous glucose monitoring (CGM) metrics by analyzing real-life CGM data in 1067 children/adolescents with type 1 diabetes (T1D) using four different treatment strategies (intermittently scanned CGM [isCGM]-multiple daily injections [MDIs]; real-time CGM-MDIs; rtCGM-insulin pump; hybrid closed-loop [HCL] therapy). GRI was positively correlated with high blood glucose index, low blood glucose index, mean glycemia, its standard deviation, coefficient of variation, and HbA1c. The four treatment strategy groups showed significantly different GRI with the lowest value in the HCL group (30.8) and the highest in the isCGM-MDIs group (68.4). These findings support the use of GRI for the assessment of the glycemic risk and the safety of specific treatment in pediatric subjects with T1D.
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Diabetes Mellitus Tipo 1 , Niño , Humanos , Adolescente , Diabetes Mellitus Tipo 1/tratamiento farmacológico , Glucemia , Hipoglucemiantes/efectos adversos , Estudios de Cohortes , Automonitorización de la Glucosa Sanguínea , Control Glucémico , InsulinaRESUMEN
The coronavirus disease 2019 (COVID-19) pandemic has heavily affected health worldwide, with the various forms of diabetes in children experiencing changes at various levels, including epidemiology, diabetic ketoacidosis rates and medical care. Type 1 diabetes showed an apparent increase in incidence, possibly owing to a direct damage of the virus to the ß-cell. Diabetic ketoacidosis also increased in association with the general fear of referring patients to the hospital. Most children with diabetes (both type 1 and type 2) did not show a worsening in metabolic control during the first lockdown, possibly owing to a more controlled diet by their parents. Glucose sensor and hybrid closed loop pump technology proved to be effective in all patients with type 1 diabetes during the pandemic, especially because the downloading of data allowed for the practice of tele-medicine. Telemedicine has in fact grown around the world and National Health Systems have started to consider it as a routine activity in clinical practice. The present review encompasses all the aspects related to the effects of the pandemic on the different forms of diabetes in children.
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AIM: To analyze sleep quality and its relationships with clinical and biochemical features in a large cohort of adults with autoimmune diabetes. METHODS: We administered to 553 patients with autoimmune diabetes the questionnaires: Pittsburgh Sleep Quality Index (PSQI), diabetes distress scale, diabetes-related quality of life and diabetes treatment satisfaction questionnaire. We excluded patients with missing HbA1c ± 4 months from PSQI administration or incorrect PSQI compilation (n = 110). RESULTS: Altered sleep quality was recorded in 142/443 subjects (32%), insufficient total sleep time in 177/443 (40%). The altered sleep quality group had higher HbA1c (median 56 mmol/mol [interquartile range-IQR 49-62] vs 59 [IQR 52-68]; P < 0.001), higher average HbA1c in the previous 36 months (59 mmol/mol [IQR 54-68] vs 56 [IQR 51-62]; P < 0.001), and more individuals with HbA1c > 53 mmol/mol (74.6% vs 62.8%; P = 0.014). Diabetes duration (P = 0.63), type of insulin delivery (P = 0.48) and glucose monitoring (P = 0.35) were uninfluential. Patients with altered sleep quality showed higher prevalence of autoimmune (42 vs 28%; P = 0.005) and mental diseases (12 vs 4%; P = 0.002); there were greater emotional distress, and lower quality of life and treatment satisfaction (P < 0.001 for all), irrespective of sex. Men with altered sleep quality had higher HbA1c and prevalence of autoimmune diseases. Women showed greater prevalence of psychiatric disorders. Average HbA1c of the previous 36 months, autoimmune or psychiatric disorders were independent predictive factors for altered sleep quality. CONCLUSION: One-third of the patients with autoimmune diabetes showed altered sleep quality, which associates with worse glycemic control, and autoimmune and mental disorders, with sex-specific differences.
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Diabetes Mellitus Tipo 1 , Diabetes Mellitus Tipo 2 , Masculino , Humanos , Adulto , Femenino , Diabetes Mellitus Tipo 1/complicaciones , Diabetes Mellitus Tipo 1/epidemiología , Diabetes Mellitus Tipo 2/complicaciones , Estudios Transversales , Calidad del Sueño , Hemoglobina Glucada , Glucemia , Calidad de Vida , Automonitorización de la Glucosa SanguíneaRESUMEN
AIMS: Patient-reported outcomes (PROs) are increasingly important for assessing patient satisfaction with diabetes technologies. PROs must be assessed with validated questionnaires in clinical practice and research studies. Our aim was to translate and validate the Italian version of the continuous glucose monitoring (CGM) Satisfaction (CGM-SAT) scale questionnaire. METHODS: Questionnaire validation followed MAPI Research Trust guidelines and included forward translation, reconciliation, backward translation, and cognitive debriefing. RESULTS: The final version of the questionnaire was administered to 210 patients with type 1 diabetes (T1D) and 232 parents. The completion rate was excellent, with almost 100% of items answered. The overall Cronbach's coefficient was 0.71 and 0.85 for young people (patients) and parents indicating moderate and good internal consistency, respectively. Parent-young people agreement was 0.404 (95% confidence interval: 0.391-0.417), indicating moderate agreement between the two assessments. Factor analysis identified that factors assessing the "benefits" and "hassles" of CGM accounted for 33.9% and 12.9% of score variance in young people and 29.6% and 19.8% in parents, respectively. DISCUSSION: We present the successful Italian translation and validation of the CGM-SAT scale questionnaire, which will be useful for assessing satisfaction with Italian T1D patients using CGM systems.
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Diabetes Mellitus Tipo 1 , Humanos , Adolescente , Diabetes Mellitus Tipo 1/psicología , Automonitorización de la Glucosa Sanguínea/psicología , Glucemia , Reproducibilidad de los Resultados , Encuestas y Cuestionarios , Italia , Satisfacción PersonalAsunto(s)
COVID-19 , Diabetes Mellitus Tipo 2 , Humanos , Adolescente , COVID-19/epidemiología , Italia/epidemiologíaRESUMEN
BACKGROUND: The link between the effects of recombinant human growth hormone (rhGH) therapy in patients with growth hormone deficiency (GHD) and Chiari malformation type I (CM-1) is controversial. SUMMARY: We report the case of a patient with an unusual association of GHD due to ectopic posterior pituitary and CM-1. Our patient developed a headache and worsening of CM-1 after the initiation of rhGH therapy. Following an atlo-occipital decompression surgery, the patient was able to resume therapy with a marked growth improvement. Based on this observation, we provide a systematic review of the current literature about these two pathologies. KEY MESSAGES: A careful follow-up of all patients with CM-1 treated with GH is mandatory, paying particular attention to the appearance of any neurological signs and symptoms.
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Malformación de Arnold-Chiari , Enanismo Hipofisario , Hormona de Crecimiento Humana , Humanos , Malformación de Arnold-Chiari/complicaciones , Malformación de Arnold-Chiari/tratamiento farmacológico , Malformación de Arnold-Chiari/cirugía , Hormona de Crecimiento Humana/uso terapéutico , Proteínas RecombinantesRESUMEN
BACKGROUND: Classic criteria for a maturity-onset diabetes of the young (MODY) diagnosis are often unable to identify all subjects, and traditional Sanger sequencing, using a candidate gene approach, leads to a high prevalence of missed genetic diagnosis, classified as MODY-X. Next generation sequencing (NGS) panels provide a highly sensitive method even for rare forms. METHODS: We investigated 28 pediatric subjects suspected for MODY-X, utilizing a 15-gene NGS panel for monogenic diabetes (MD). RESULTS: NGS detected variants of uncertain significance (VUS), likely pathogenic or pathogenic for rarer subtypes of MODY, in six patients. We found variants in the wolframin gene (WFS1), traditionally not considered in MD genetic screening panels, in three patients; KCNJ11 gene mutation, typically responsible for neonatal diabetes and rarely causing isolated diabetes in adolescents; INS gene mutation; a variant in the HNF1B gene in a young male with diabetes on sulfonylurea treatment. CONCLUSION: In our cohort, the availability of an NGS panel for MD was determined for the correct identification of MD subtypes in six patients with MODY-X. Our study underlines how a precise diagnosis utilizing NGS may have an impact on the management of different forms of MODY and, thus, lead to a tailored treatment and enable genetic counselling of other family members.